{"entities":{"Q97276":{"pageid":87669,"ns":120,"title":"Item:Q97276","lastrevid":550167,"modified":"2026-08-16T13:22:28Z","type":"item","id":"Q97276","labels":{"mul":{"language":"mul","value":"ID_1750994167"},"pt-br":{"language":"pt-br","value":"Oftalmoplegia externa progressiva, autoss\u00f4mica dominante, tipo 3"},"en":{"language":"en","value":"Progressive external ophthalmoplegia, autosomal dominant, type 3"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Oftalmoplegia externa progressiva autoss\u00f4mica dominante com dele\u00e7\u00f5es-3 do DNA mitocondrial (PEOA3) \u00e9 causada pela muta\u00e7\u00e3o heterozig\u00f3tica do gene twinkle (C10ORF2; 606075) no cromossomo 10q24. As caracter\u00edsticas cl\u00ednicas mais comuns incluem in\u00edcio na idade adulta de fraqueza dos m\u00fasculos externos do olho e intoler\u00e2ncia ao exerc\u00edcio. Pacientes com oftalmoplegia externa progressiva ligada ao gene C10ORF2 podem ter outras manifesta\u00e7\u00f5es cl\u00ednicas incluindo fraqueza muscular proximal, ataxia, neuropatia perif\u00e9rica, cardiomiopatia, catarata, depress\u00e3o e anormalidades end\u00f3crinas. Oftalmoplegia externa progressiva causada pela muta\u00e7\u00e3o no gene POLG \u00e9 associada com fen\u00f3tipos mais complicados que as formas causadas pela muta\u00e7\u00e3o nos genes SLC25A4 (103220) e C10ORF2."},"en":{"language":"en","value":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-3 (PEOA3) is caused by heterozygous mutation in the nuclear-encoded twinkle gene (C10ORF2; 606075) on chromosome 10q24.The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked autosomal dominant progressive external ophthalmoplegia may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities. progressive external ophthalmoplegia caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"21d353c40e782fe0f9cc9e21c0308bf33b20d73b","datavalue":{"value":"https://id.who.int/icd/entity/1750994167","type":"string"},"datatype":"url"},"type":"statement","id":"Q97276$10ECC682-0752-4480-B6BF-14BEDDE9509D","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"d385f2ddcd043783743374426d6953d16b6e9b24","datavalue":{"value":"CID11:ID_1750994167","type":"string"},"datatype":"string"},"type":"statement","id":"Q97276$1330D785-F8DE-4AAF-8CC5-7A382133ADA1","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"32eb41d149180d7809996ae280a1a483e4e6fed5","datavalue":{"value":"dki-india-ID_1750994167","type":"string"},"datatype":"string"},"type":"statement","id":"Q97276$5137D0D7-FEFD-4DA4-8BB1-6CB742104EE6","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q97276$7461680E-293C-4132-867A-465A68F8870C","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q97276$7D54CB75-EDA8-4DB5-A716-CA0469BEB624","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q97276$3DDA0BF4-F5D9-4B5A-BD63-502D99D0FC45","rank":"normal"}]},"sitelinks":{}}}}